Zenaty D, Dijoud F, Morel Y, Cabrol S, Mouriquand P, Nicolino M, Bouvatier C, Pinto G, Lecointre C, Pienkowski C, Soskin S, Bost M, Bertrand A M, El-Ghoneimi A, Nihoul-Fekete C, Léger J
Assistance Publique-Hôpitaux de Paris, Robert Debré Hospital, Paediatric Endocrinology Unit and Inserm U457, Paris, France.
J Pediatr. 2006 Nov;149(5):687-91. doi: 10.1016/j.jpeds.2006.07.044.
To analyze the clinical and histological findings in boys with bilateral anorchia and the response to testosterone treatment on penis length.
Patients were divided into two groups according to the absence (group A, n = 29) or the presence (group B, n = 26) of palpable intrascrotal or inguinal mass at first clinical examination.
A micropenis was found in 46% of patients (n = 24) with a similar proportion in both groups. Testosterone treatment induced a mean penis length gain of 1.9 +/- 1.3 SDS (standard deviation score). However, micropenis persisted in six patients. Histological examination (n = 18) confirmed the absence of any testicular structure with deferent ducts being present unilaterally or bilaterally in all but three patients. In these three patients, a hemorrhagic testis, probably as a result of a mechanical torsion, was found.
The presence of isolated micropenis in almost half of patients with bilateral anorchia strongly suggests that the testicular damage frequently occurs during the second half of gestation after male sexual differentiation. In most cases, testosterone treatment stimulates the penile growth. Although the pathogenesis of bilateral anorchia may be heterogeneous, our study suggests that gonads may have been functionally abnormal before they disappeared, and suggests that some patients have an intrinsic endocrine disorder.
分析双侧无睾男孩的临床和组织学表现以及睾酮治疗对阴茎长度的反应。
根据首次临床检查时阴囊内或腹股沟区是否可触及肿块，将患者分为两组（A组，n = 29；B组，n = 26）。
46%的患者（n = 24）存在小阴茎，两组比例相似。睾酮治疗使阴茎长度平均增加1.9 +/- 1.3 SDS（标准差评分）。然而，6例患者仍存在小阴茎。组织学检查（n = 18）证实除3例患者外，其余患者均无任何睾丸结构，单侧或双侧存在输精管。在这3例患者中，发现了一个出血性睾丸，可能是机械性扭转所致。
几乎一半的双侧无睾患者存在孤立性小阴茎，这强烈提示睾丸损伤常在男性性分化后的妊娠后半期发生。在大多数情况下，睾酮治疗可刺激阴茎生长。尽管双侧无睾的发病机制可能多种多样，但我们的研究表明，性腺在消失前可能已存在功能异常，提示部分患者存在内在的内分泌紊乱。
